Rare Genetic Disorders in Children

New software allows a computer to scour family snaps for facial features characteristic of conditions such as Down’s syndrome

Doctors can now diagnose rare genetic disorders in children using family photographs.

Newly developed facial-recognition software allows a computer to scour family snaps for facial features characteristic of conditions such as Down’s syndrome.

In future, it could be used to identify people born with such disorders, allowing them to be given early treatment.

The computer software, developed at the Universities of Edinburgh and Oxford, employs a form of “artificial intelligence” to learn what aspects of a person’s face are linked to particular conditions.

It builds a description of the structure of the face by identifying corners of eyes, the nose, the mouth and other features and compares the results with a database of remembered features.

Between 30% and 40% of rare genetic disorders are thought to involve changes in the shape of the face and skull.

A photo automatically analyzed to detect faces and feature points are placed using computer vision algorithms (elifesciences.org)

These occur because of the large number of genes that are involved in the development of the face and skull as a foetus grows in the womb.

However, the changes may not be obvious and a majority of those with the conditions do not receive a genetic diagnosis.

Researchers hope doctors will in future be able to take a smartphone picture of a patient and return with a diagnosis in just a few hours.

Lead researcher Dr Christopher Nellaker, from the Medical Research Council’s Functional Genomics Unit at Oxford University, said: “A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on.

“A diagnosis can also improve estimates of how the disease might progress, or show which symptoms are caused by the genetic disorder and which are caused by other clinical issues that can be treated.”

100 faces with controlled phenotype, lighting, and rotation variation were rendered (elifesciences.org)

You might also like
Sequencing the Genomes of Children at Birth
Sequencing the Genomes of Children at Birth
TO THE CONTRARY | Meet the Beerys: DNA Sequencing and Rare
TO THE CONTRARY | Meet the Beerys: DNA Sequencing and Rare ...
Hannes Smarason on Genome Sequencing for Children with
Hannes Smarason on Genome Sequencing for Children with ...

Provinces and territories talk health care  — Canada NewsWire
Participating provincial and territorial health ministers discussed the significant challenges they face in providing new drug therapies to treat rare diseases.

Part 2--DNA Sequencing and Children with Rare Diseases
Part 2--DNA Sequencing and Children with Rare Diseases
Teen Overcomes Genetic Disorder, Skydives For First Time
Teen Overcomes Genetic Disorder, Skydives For First Time
Aware of Angels Video: Help Children with Genetic Disorders
Aware of Angels Video: Help Children with Genetic Disorders
Related Posts